Abstract:
:The gene for X-linked nephrogenic diabetes insipidus (NDI), a disorder which, if untreated, causes severe dehydration, mental retardation, and possibly death in affected males, has been mapped recently to the Xq28 band through demonstration of linkage to the DX552 locus and other DNA markers (N. Knoers et al., 1987, Cytogenet. Cell Genet. 46:640; M. Kambouris et al., 1987, Cytogenet. Cell Genet. 46:636). Linkage studies in 11 families with NDI have enabled us to map the NDI gene between closely linked flanking markers in the Xq28 region and to obtain the following gene order: centromere-F9-DXS98-F8/CBD,CBP-DXS52/NDI-DXS134- telomere. These results have implications for presymptomatic and prenatal diagnosis of NDI and should also improve the prospects for identifying the fundamental gene defect underlying this disorder.
journal_name
Genomicsjournal_title
Genomicsauthors
Knoers N,van der Heyden H,van Oost BA,Monnens L,Willems J,Ropers HHdoi
10.1016/0888-7543(89)90352-2subject
Has Abstractpub_date
1989-04-01 00:00:00pages
434-7issue
3eissn
0888-7543issn
1089-8646pii
0888-7543(89)90352-2journal_volume
4pub_type
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